Allele Registry

Canonical Allele Identifier: PA2826260723

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000488340

RCV000692247

RCV001136462

RCV001136463

RCV002345677

RCV003128398

ClinVar Variation:

206875

HGVS (amino-acid)	Matching Registered Transcripts
NP_001189364.1:p.Gly1880Glu	CA317645 NM_001202435.3:c.5639G>A